Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis
Isabel ConceiçãoM Ueda

Abstract

Diagnosis in the early stages of hereditary transthyretin (ATTR) amyloidosis is imperative to support timely treatment to prevent or delay disease progression. Genetic testing in the setting of genetic counselling enables identification of carriers of a TTR gene mutation who are therefore at risk of developing TTR-associated disease. Knowledge of different genotypes and how they manifest in symptomatic disease should facilitate development of a structured and targeted approach to enable diagnosis of symptomatic disease in ATTR amyloidosis mutation carriers on the first manifestation of the earliest detectable sign or symptom. A group of experts from across Europe, Israel and Japan met to reach a consensus on such an approach. The proposed approach involves establishing a baseline for key clinical parameters, determination of the timing and frequency of follow-up in TTR mutation carriers based on a predicted age of disease onset, and recognition of the likely initial clinical signs and symptoms aligned with the phenotype of the specific TTR gene mutation and family history. Minimum criteria for diagnosis of symptomatic disease have been agreed, which it is hoped will ensure diagnosis of ATTR amyloidosis at the earliest possible ...Continue Reading

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Citations

Jul 25, 2019·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Isabel ConceiçãoAntoine Rousseau
Aug 1, 2019·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Isabel Conceição
Sep 26, 2019·ESC Heart Failure·Hiroyuki Yamamoto, Tomoki Yokochi
Sep 27, 2019·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Ole B Suhr
Jun 2, 2020·Circulation·Michelle M KittlesonUNKNOWN American Heart Association Heart Failure and Transplantation Committee of the Council on Clinical Cardiology
May 8, 2020·Journal of the Peripheral Nervous System : JPNS·Laura Obici, David Adams
May 13, 2020·European Heart Journal Cardiovascular Imaging·Ruxandra JurcuţBogdan A Popescu
Sep 15, 2019·Current Heart Failure Reports·Deepa M GopalOmar K Siddiqi
Jul 8, 2020·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Eugenia Cisneros-BarrosoInes Losada
Jul 18, 2020·Journal of Clinical Medicine·Michaela Auer-GrumbachDiana Bonderman
Oct 10, 2020·European Journal of Internal Medicine·Aldostefano PorcariGianfranco Sinagra
Apr 17, 2020·Deutsches Ärzteblatt International·Sandra IhneStefan Störk
Feb 7, 2021·Genome Medicine·Noura S Abul-HusnEimear E Kenny
Nov 15, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Fiore ManganelliDavide Pareyson
Jan 21, 2021·Journal of Personalized Medicine·Emily R SoperNoura S Abul-Husn
Jan 13, 2021·Orphanet Journal of Rare Diseases·Montserrat Vera-LlonchMichael Pollock
Feb 20, 2021·Current Opinion in Cardiology·Rabah Alreshq, Frederick L Ruberg
Feb 26, 2021·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Monica AlcantaraVera Bril
May 13, 2021·JAMA Cardiology·Arjun SinhaSadiya S Khan
Jun 2, 2021·Neuromuscular Disorders : NMD·Soon-Chai LowKhean-Jin Goh
Jul 1, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Luca LeonardiGiovanni Antonini
Aug 1, 2021·Neurology and Therapy·Juan González-MorenoLeslie Amass
Nov 10, 2021·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·José CastroIsabel Conceição

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